Phenotype #0000172129

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00228199
Associated disease	LGMD
Phenotype details	muscle weakness lower extrimities proximal; involvement proximal muscles upper limb/shoulder girdle at presentation; serum CK 210; no caridac involvement
Diagnosis/Initial	LGMD
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2B
Age/Examination	49y (49 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	WB dysferlin recuded
Owner name	Ieke Ginjaar
Database submission license
Created by	Johan den Dunnen
Date created	2019-03-20 15:19:47 +01:00 (CET)
Date last edited	2020-10-04 11:04:50 +02:00 (CEST)

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